Canonical Allele Identifier: CA399010461

Gene: NF1

Linked Data

• dbSNP Id: rs786203896
• MyVariant Identifiers: chr17:g.29657486G>A (hg19) ; chr17:g.31330468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330468G>A , CM000679.2:g.31330468G>A	GRCh38
NC_000017.10:g.29657486G>A , CM000679.1:g.29657486G>A	GRCh37
NC_000017.9:g.26681612G>A	NCBI36
NG_009018.1:g.240492G>A , LRG_214:g.240492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1970G>A	ENSP00000492721.2:n.1970G>A
ENST00000696138.1:c.5764G>A	ENSP00000512431.1:p.Glu1922Lys
ENST00000684826.1:c.346G>A	ENSP00000509994.1:p.Glu116Lys
ENST00000687027.1:c.-63G>A	ENSP00000508715.1:n.-63G>A
ENST00000687863.1:n.2427G>A
ENST00000691014.1:c.5812G>A	ENSP00000510595.1:p.Glu1938Lys
ENST00000693617.1:c.346G>A	ENSP00000510031.1:p.Glu116Lys
ENST00000358273.9:c.5782G>A MANE Select	ENSP00000351015.4:p.Glu1928Lys
ENST00000356175.7:c.5719G>A	ENSP00000348498.3:p.Glu1907Lys
ENST00000358273.8:c.5782G>A	ENSP00000351015.4:p.Glu1928Lys
ENST00000456735.6:c.4717G>A	ENSP00000389907.2:p.Glu1573Lys
ENST00000479536.2:c.140G>A
ENST00000493220.5:n.4255G>A
ENST00000579081.5:c.5918G>A	ENSP00000462408.1:n.5918G>A
ENST00000581113.6:n.1099G>A
NM_000267.3:c.5719G>A , LRG_214t1:c.5719G>A	NP_000258.1:p.Glu1907Lys
NM_001042492.2:c.5782G>A , LRG_214t2:c.5782G>A	NP_001035957.1:p.Glu1928Lys
XM_005257983.1:c.5782G>A	XP_005258040.1:p.Glu1928Lys
XM_005257984.1:c.5719G>A	XP_005258041.1:p.Glu1907Lys
XM_006721922.1:c.5812G>A	XP_006721985.1:p.Glu1938Lys
XM_006721923.2:c.5773G>A	XP_006721986.1:p.Glu1925Lys
XM_006721924.1:c.5812G>A	XP_006721987.1:p.Glu1938Lys
XM_006721925.1:c.5749G>A	XP_006721988.1:p.Glu1917Lys
XM_006721926.2:c.5812G>A	XP_006721989.1:p.Glu1938Lys
XM_006721927.1:c.5812G>A	XP_006721990.1:p.Glu1938Lys
XM_011524852.1:c.5809G>A	XP_011523154.1:p.Glu1937Lys
XM_011524853.1:c.5773G>A	XP_011523155.1:p.Glu1925Lys
XM_011524854.1:c.5773G>A	XP_011523156.1:p.Glu1925Lys
XM_011524855.1:c.5773G>A	XP_011523157.1:p.Glu1925Lys
XM_011524856.1:c.5773G>A	XP_011523158.1:p.Glu1925Lys
XM_011524857.1:c.5812G>A	XP_011523159.1:p.Glu1938Lys
NM_001042492.3:c.5782G>A MANE Select	NP_001035957.1:p.Glu1928Lys